Screening for FEVR
(Familial Exudative Vitreoretinopathy)
FEVR is a genetic disease that affects the retina and leads to vision loss due to abnormal development of the blood vessels.
Around 20-30% of CTNNB1 syndrome patients have reported FEVR. Screening for FEVR using fluorescein angiography is crucial, especially in less cooperative children, as it significantly improves early detection and treatment outcomes.
This method helps identify FEVR that might otherwise be missed during a standard examination. Given the complexity and heterogeneity of CTNNB1, which often affects vision, regular screening based on disease stage is essential. Early identification prevents retinal detachments in children with developmental delay from being mistaken as self-inflicted injuries and ensures timely intervention.
News: Ophthalmoscopy Insufficient to Detect Vitreoretinopathy in CTNNB1 Syndrome.
Publication: Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome (2024).
A presentation on the topic is available on the video below:
Raising Clinical Awareness of Congenital Heart Defect
CTNNB1 is highly expressed in the brain and other tissues, including the heart. Congenital heart defects can sometimes be overlooked, especially if they are mild or present without obvious symptoms. However, in children with CTNNB1 syndrome, these defects can significantly impact overall health and development. It’s crucial to identify and monitor these heart anomalies early on to provide appropriate care and interventions. Dedicated heart examinations should be part of the clinical management for children with CTNNB1 syndrome to ensure any heart-related issues are promptly addressed, improving the child’s health and quality of life.
Share this article by Dr. Lorenzo Sinibaldi, Clinical Genetics, with your medical team.
A presentation on the topic is available on the video below:
Tethered Cord with Surgical Detethering,
an Under-Recognised Comorbidity
Tethered cord syndrome is an often under-recognized comorbidity in children with CTNNB1 syndrome. This condition involves the spinal cord being abnormally attached within the spinal column, which can restrict movement and cause neurological issues. Surgical detethering can relieve symptoms and prevent further neurological damage. Given the complexity and range of symptoms in CTNNB1 syndrome, including developmental delays and motor dysfunctions, it’s important to screen for tethered cord syndrome to provide timely surgical intervention. Early detection and treatment are crucial for improving outcomes and quality of life for affected children
A presentation on the topic is available on the video below:
Movement Disorder Phenotype
in CTNNB1 syndrome patients
If your medical team is interested in learning about a very complex phenotype of movement disorders, here is a presentation on this topic by Dr. Giacomo Garone, a pediatric neurologist:
